NM_000440.3(PDE6A):c.1476A>C (p.Gln492His)
|
rs17711594
|
0.00665
|
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys)
|
rs61733363
|
0.00596
|
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=)
|
rs142259966
|
0.00445
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val)
|
rs138315990
|
0.00098
|
NM_000440.3(PDE6A):c.2038A>G (p.Met680Val)
|
rs148598583
|
0.00094
|
NM_000440.3(PDE6A):c.1744C>T (p.Arg582Cys)
|
rs148785740
|
0.00084
|
NM_000440.3(PDE6A):c.343G>A (p.Val115Ile)
|
rs147159579
|
0.00081
|
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)
|
rs148938083
|
0.00069
|
NM_000440.3(PDE6A):c.177A>G (p.Glu59=)
|
rs146550067
|
0.00050
|
NM_000440.3(PDE6A):c.2274+11_2274+12del
|
rs779117136
|
0.00050
|
NM_000440.3(PDE6A):c.2238T>G (p.Gly746=)
|
rs145809648
|
0.00048
|
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser)
|
rs145107955
|
0.00038
|
NM_000440.3(PDE6A):c.298C>T (p.Arg100Trp)
|
rs200540105
|
0.00033
|
NM_000440.3(PDE6A):c.1952A>G (p.Asn651Ser)
|
rs149380104
|
0.00029
|
NM_000440.3(PDE6A):c.216A>G (p.Leu72=)
|
rs570928102
|
0.00021
|
NM_000440.3(PDE6A):c.1167G>A (p.Pro389=)
|
rs199676934
|
0.00019
|
NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val)
|
rs147047715
|
0.00019
|
NM_000440.3(PDE6A):c.2275-12C>T
|
rs369288898
|
0.00016
|
NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys)
|
rs199748187
|
0.00014
|
NM_000440.3(PDE6A):c.1066-7C>G
|
rs370250500
|
0.00013
|
NM_000440.3(PDE6A):c.594G>A (p.Val198=)
|
rs398123394
|
0.00013
|
NM_000440.3(PDE6A):c.1728+13C>T
|
rs144868706
|
0.00011
|
NM_000440.3(PDE6A):c.1927-20G>A
|
rs371677858
|
0.00011
|
NM_000440.3(PDE6A):c.2349C>T (p.Phe783=)
|
rs202092523
|
0.00011
|
NM_000440.3(PDE6A):c.2359-17C>T
|
rs368621811
|
0.00011
|
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)
|
rs199738915
|
0.00011
|
NM_000440.3(PDE6A):c.2037G>A (p.Thr679=)
|
rs140267699
|
0.00010
|
NM_000440.3(PDE6A):c.2249G>A (p.Arg750His)
|
rs146145709
|
0.00010
|
NM_000440.3(PDE6A):c.2275-10C>T
|
rs148881523
|
0.00010
|
NM_000440.3(PDE6A):c.2526G>A (p.Pro842=)
|
rs376909494
|
0.00010
|
NM_000440.3(PDE6A):c.1092G>A (p.Ala364=)
|
rs774836540
|
0.00009
|
NM_000440.3(PDE6A):c.1473+12C>T
|
rs201026028
|
0.00009
|
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn)
|
rs199924410
|
0.00009
|
NM_000440.3(PDE6A):c.830T>C (p.Val277Ala)
|
rs145608358
|
0.00009
|
NM_000440.3(PDE6A):c.1434G>A (p.Glu478=)
|
rs138205652
|
0.00007
|
NM_000440.3(PDE6A):c.1479G>A (p.Ala493=)
|
rs772707339
|
0.00007
|
NM_000440.3(PDE6A):c.1032C>T (p.Ser344=)
|
rs121918577
|
0.00006
|
NM_000440.3(PDE6A):c.1066-14T>C
|
rs921783241
|
0.00006
|
NM_000440.3(PDE6A):c.1695C>T (p.Phe565=)
|
rs555717382
|
0.00006
|
NM_000440.3(PDE6A):c.1728+7C>T
|
rs200781025
|
0.00006
|
NM_000440.3(PDE6A):c.1958G>A (p.Arg653Gln)
|
rs777944622
|
0.00006
|
NM_000440.3(PDE6A):c.711T>C (p.Arg237=)
|
rs953914552
|
0.00006
|
NM_000440.3(PDE6A):c.1296A>G (p.Leu432=)
|
rs372161698
|
0.00005
|
NM_000440.3(PDE6A):c.285C>T (p.Ser95=)
|
rs765008436
|
0.00005
|
NM_000440.3(PDE6A):c.363C>T (p.Leu121=)
|
rs767520227
|
0.00005
|
NM_000440.3(PDE6A):c.1473+13G>A
|
rs745516870
|
0.00004
|
NM_000440.3(PDE6A):c.1474-10C>A
|
rs767861672
|
0.00004
|
NM_000440.3(PDE6A):c.1474-17C>T
|
rs376831400
|
0.00004
|
NM_000440.3(PDE6A):c.2052C>T (p.Ile684=)
|
rs772049478
|
0.00004
|
NM_000440.3(PDE6A):c.240T>C (p.Asn80=)
|
rs776664462
|
0.00004
|
NM_000440.3(PDE6A):c.384C>T (p.Pro128=)
|
rs192618681
|
0.00004
|
NM_000440.3(PDE6A):c.474+11C>T
|
rs570825152
|
0.00004
|
NM_000440.3(PDE6A):c.1503C>T (p.Tyr501=)
|
rs780997137
|
0.00003
|
NM_000440.3(PDE6A):c.1728+8G>A
|
rs372315011
|
0.00003
|
NM_000440.3(PDE6A):c.2013C>T (p.Leu671=)
|
rs769405151
|
0.00003
|
NM_000440.3(PDE6A):c.2253G>A (p.Thr751=)
|
rs772097551
|
0.00003
|
NM_000440.3(PDE6A):c.2448C>T (p.Tyr816=)
|
rs769636229
|
0.00003
|
NM_000440.3(PDE6A):c.45G>A (p.Ser15=)
|
rs146811139
|
0.00003
|
NM_000440.3(PDE6A):c.858+10C>T
|
rs370635591
|
0.00003
|
NM_000440.3(PDE6A):c.9G>A (p.Glu3=)
|
rs770411090
|
0.00003
|
NM_000440.3(PDE6A):c.1114-4G>A
|
rs368623577
|
0.00002
|
NM_000440.3(PDE6A):c.156G>A (p.Pro52=)
|
rs765977242
|
0.00002
|
NM_000440.3(PDE6A):c.1723C>T (p.Leu575=)
|
rs767206584
|
0.00002
|
NM_000440.3(PDE6A):c.1927-5T>C
|
rs772762362
|
0.00002
|
NM_000440.3(PDE6A):c.2130C>T (p.Ile710=)
|
rs750000569
|
0.00002
|
NM_000440.3(PDE6A):c.2325C>T (p.Gly775=)
|
rs1243259073
|
0.00002
|
NM_000440.3(PDE6A):c.2508A>T (p.Ala836=)
|
rs893912674
|
0.00002
|
NM_000440.3(PDE6A):c.420C>T (p.Ile140=)
|
rs542505960
|
0.00002
|
NM_000440.3(PDE6A):c.60C>G (p.Ala20=)
|
rs765355369
|
0.00002
|
NM_000440.3(PDE6A):c.717+15C>T
|
rs747210942
|
0.00002
|
NM_000440.3(PDE6A):c.981G>A (p.Glu327=)
|
rs772714338
|
0.00002
|
NM_000440.3(PDE6A):c.1063C>T (p.Leu355=)
|
rs780461144
|
0.00001
|
NM_000440.3(PDE6A):c.1074C>T (p.Asn358=)
|
rs758801133
|
0.00001
|
NM_000440.3(PDE6A):c.1122T>G (p.Pro374=)
|
rs1000642696
|
0.00001
|
NM_000440.3(PDE6A):c.1206A>G (p.Thr402=)
|
rs780335505
|
0.00001
|
NM_000440.3(PDE6A):c.1263+14G>A
|
rs1239897985
|
0.00001
|
NM_000440.3(PDE6A):c.1263+15G>C
|
rs762978984
|
0.00001
|
NM_000440.3(PDE6A):c.1452A>G (p.Glu484=)
|
rs1322636309
|
0.00001
|
NM_000440.3(PDE6A):c.1473+14G>A
|
rs778440533
|
0.00001
|
NM_000440.3(PDE6A):c.1483C>T (p.Leu495=)
|
rs769353417
|
0.00001
|
NM_000440.3(PDE6A):c.1488A>G (p.Pro496=)
|
rs151252699
|
0.00001
|
NM_000440.3(PDE6A):c.1620+7T>G
|
rs755438886
|
0.00001
|
NM_000440.3(PDE6A):c.1698C>T (p.Asn566=)
|
rs149698452
|
0.00001
|
NM_000440.3(PDE6A):c.1707G>A (p.Gln569=)
|
rs190218524
|
0.00001
|
NM_000440.3(PDE6A):c.1729-15T>C
|
rs367796771
|
0.00001
|
NM_000440.3(PDE6A):c.1729-4C>T
|
rs555052906
|
0.00001
|
NM_000440.3(PDE6A):c.2028-11A>T
|
rs751895061
|
0.00001
|
NM_000440.3(PDE6A):c.2166A>G (p.Ser722=)
|
rs777359709
|
0.00001
|
NM_000440.3(PDE6A):c.2275-3C>G
|
rs1760328387
|
0.00001
|
NM_000440.3(PDE6A):c.2310T>C (p.Pro770=)
|
rs1376891006
|
0.00001
|
NM_000440.3(PDE6A):c.2355C>T (p.Tyr785=)
|
rs201275090
|
0.00001
|
NM_000440.3(PDE6A):c.2376C>T (p.His792=)
|
rs755144386
|
0.00001
|
NM_000440.3(PDE6A):c.2433G>A (p.Ala811=)
|
rs749307093
|
0.00001
|
NM_000440.3(PDE6A):c.2523G>A (p.Gln841=)
|
rs753027862
|
0.00001
|
NM_000440.3(PDE6A):c.2559A>C (p.Thr853=)
|
rs1322756731
|
0.00001
|
NM_000440.3(PDE6A):c.279C>T (p.Arg93=)
|
rs1158661149
|
0.00001
|
NM_000440.3(PDE6A):c.286C>T (p.Leu96=)
|
rs148052388
|
0.00001
|
NM_000440.3(PDE6A):c.39G>A (p.Leu13=)
|
rs752568832
|
0.00001
|
NM_000440.3(PDE6A):c.628-5T>G
|
rs757034771
|
0.00001
|
NM_000440.3(PDE6A):c.678C>T (p.His226=)
|
rs762172422
|
0.00001
|
NM_000440.3(PDE6A):c.6C>T (p.Gly2=)
|
rs745322421
|
0.00001
|
NM_000440.3(PDE6A):c.859-13T>C
|
rs748579622
|
0.00001
|
NM_000440.3(PDE6A):c.934-19T>G
|
rs1450675487
|
0.00001
|
NM_000440.3(PDE6A):c.934-9T>C
|
rs754699776
|
0.00001
|
NM_000440.3(PDE6A):c.951G>A (p.Lys317=)
|
rs1243383426
|
0.00001
|
NM_000440.3(PDE6A):c.1038C>G (p.Leu346=)
|
|
|
NM_000440.3(PDE6A):c.1047T>C (p.Tyr349=)
|
rs2113616211
|
|
NM_000440.3(PDE6A):c.1066-10C>T
|
rs1753073308
|
|
NM_000440.3(PDE6A):c.1113+11T>A
|
|
|
NM_000440.3(PDE6A):c.1114-13C>A
|
|
|
NM_000440.3(PDE6A):c.1114-18C>A
|
rs754220779
|
|
NM_000440.3(PDE6A):c.114G>C (p.Gly38=)
|
|
|
NM_000440.3(PDE6A):c.1161A>G (p.Ser387=)
|
|
|
NM_000440.3(PDE6A):c.1264-16T>A
|
|
|
NM_000440.3(PDE6A):c.1264-18C>A
|
|
|
NM_000440.3(PDE6A):c.1264-5_1264-4del
|
|
|
NM_000440.3(PDE6A):c.129C>T (p.Ala43=)
|
|
|
NM_000440.3(PDE6A):c.1380T>C (p.Cys460=)
|
|
|
NM_000440.3(PDE6A):c.1407+12T>C
|
rs2113592288
|
|
NM_000440.3(PDE6A):c.1407+18C>T
|
|
|
NM_000440.3(PDE6A):c.1408-17A>G
|
|
|
NM_000440.3(PDE6A):c.1419G>A (p.Glu473=)
|
|
|
NM_000440.3(PDE6A):c.1422G>A (p.Val474=)
|
|
|
NM_000440.3(PDE6A):c.1437A>G (p.Pro479=)
|
rs2113587986
|
|
NM_000440.3(PDE6A):c.1473+15G>A
|
|
|
NM_000440.3(PDE6A):c.1473+18A>G
|
|
|
NM_000440.3(PDE6A):c.1474-15C>T
|
|
|
NM_000440.3(PDE6A):c.1474-5T>C
|
rs1366454116
|
|
NM_000440.3(PDE6A):c.147C>T (p.Tyr49=)
|
|
|
NM_000440.3(PDE6A):c.1485G>A (p.Leu495=)
|
|
|
NM_000440.3(PDE6A):c.1509T>A (p.Ile503=)
|
|
|
NM_000440.3(PDE6A):c.1551G>A (p.Glu517=)
|
|
|
NM_000440.3(PDE6A):c.1593G>T (p.Val531=)
|
|
|
NM_000440.3(PDE6A):c.1608C>T (p.His536=)
|
|
|
NM_000440.3(PDE6A):c.1620+20A>G
|
|
|
NM_000440.3(PDE6A):c.1621-5C>T
|
|
|
NM_000440.3(PDE6A):c.1621-6T>C
|
rs1239797536
|
|
NM_000440.3(PDE6A):c.1621-6T>G
|
rs1239797536
|
|
NM_000440.3(PDE6A):c.1623C>T (p.Ala541=)
|
|
|
NM_000440.3(PDE6A):c.1635C>T (p.Phe545=)
|
rs2113582916
|
|
NM_000440.3(PDE6A):c.1647G>A (p.Leu549=)
|
rs1016493624
|
|
NM_000440.3(PDE6A):c.1671C>G (p.Thr557=)
|
rs1334812851
|
|
NM_000440.3(PDE6A):c.1674C>T (p.Tyr558=)
|
rs375659222
|
|
NM_000440.3(PDE6A):c.1689C>T (p.His563=)
|
rs776918069
|
|
NM_000440.3(PDE6A):c.1728+11G>A
|
|
|
NM_000440.3(PDE6A):c.1728+14G>A
|
|
|
NM_000440.3(PDE6A):c.1729-6T>C
|
|
|
NM_000440.3(PDE6A):c.1740G>A (p.Leu580=)
|
|
|
NM_000440.3(PDE6A):c.1758C>T (p.Asp586=)
|
|
|
NM_000440.3(PDE6A):c.1759C>T (p.Leu587=)
|
|
|
NM_000440.3(PDE6A):c.1815C>G (p.Gly605=)
|
|
|
NM_000440.3(PDE6A):c.1830C>T (p.Tyr610=)
|
|
|
NM_000440.3(PDE6A):c.1838+11C>T
|
rs781724083
|
|
NM_000440.3(PDE6A):c.1838+14C>T
|
|
|
NM_000440.3(PDE6A):c.1838+15C>T
|
|
|
NM_000440.3(PDE6A):c.1857C>T (p.Ala619=)
|
|
|
NM_000440.3(PDE6A):c.1863C>T (p.Leu621=)
|
|
|
NM_000440.3(PDE6A):c.1872C>G (p.Ser624=)
|
|
|
NM_000440.3(PDE6A):c.1905C>T (p.Gly635=)
|
|
|
NM_000440.3(PDE6A):c.1926+19del
|
|
|
NM_000440.3(PDE6A):c.1927-8T>C
|
rs770392110
|
|
NM_000440.3(PDE6A):c.1941T>C (p.Phe647=)
|
rs1011297014
|
|
NM_000440.3(PDE6A):c.1959A>G (p.Arg653=)
|
|
|
NM_000440.3(PDE6A):c.1965T>C (p.His655=)
|
rs753303277
|
|
NM_000440.3(PDE6A):c.1992T>A (p.Ile664=)
|
|
|
NM_000440.3(PDE6A):c.2027+16C>T
|
|
|
NM_000440.3(PDE6A):c.2027+7A>G
|
rs2113553314
|
|
NM_000440.3(PDE6A):c.2028-15T>C
|
|
|
NM_000440.3(PDE6A):c.2046A>G (p.Gln682=)
|
|
|
NM_000440.3(PDE6A):c.2135+16G>C
|
|
|
NM_000440.3(PDE6A):c.2151C>T (p.Thr717=)
|
rs756926282
|
|
NM_000440.3(PDE6A):c.2181C>G (p.Pro727=)
|
rs1760399009
|
|
NM_000440.3(PDE6A):c.2199+13G>A
|
|
|
NM_000440.3(PDE6A):c.2199+20C>G
|
|
|
NM_000440.3(PDE6A):c.2200-7G>T
|
rs745449071
|
|
NM_000440.3(PDE6A):c.2223A>G (p.Glu741=)
|
|
|
NM_000440.3(PDE6A):c.2242C>T (p.Leu748=)
|
rs963290822
|
|
NM_000440.3(PDE6A):c.225G>A (p.Glu75=)
|
rs887244543
|
|
NM_000440.3(PDE6A):c.2274+15G>T
|
|
|
NM_000440.3(PDE6A):c.2275-5G>A
|
rs2113503573
|
|
NM_000440.3(PDE6A):c.231C>T (p.Cys77=)
|
|
|
NM_000440.3(PDE6A):c.2322C>T (p.Val774=)
|
rs766767235
|
|
NM_000440.3(PDE6A):c.2358+12G>C
|
|
|
NM_000440.3(PDE6A):c.2358+13C>T
|
|
|
NM_000440.3(PDE6A):c.2359-19C>A
|
|
|
NM_000440.3(PDE6A):c.2388C>A (p.Thr796=)
|
rs2113495116
|
|
NM_000440.3(PDE6A):c.2388C>T (p.Thr796=)
|
rs2113495116
|
|
NM_000440.3(PDE6A):c.2412C>T (p.Asn804=)
|
rs1028395619
|
|
NM_000440.3(PDE6A):c.2430G>A (p.Lys810=)
|
rs2113494891
|
|
NM_000440.3(PDE6A):c.243C>G (p.Val81=)
|
|
|
NM_000440.3(PDE6A):c.2476AAG[1] (p.Lys827del)
|
rs533737981
|
|
NM_000440.3(PDE6A):c.2496G>A (p.Ser832=)
|
|
|
NM_000440.3(PDE6A):c.24G>A (p.Glu8=)
|
|
|
NM_000440.3(PDE6A):c.2506+12G>T
|
rs201462717
|
|
NM_000440.3(PDE6A):c.2506+7G>A
|
rs1382186195
|
|
NM_000440.3(PDE6A):c.2507-15C>T
|
|
|
NM_000440.3(PDE6A):c.2511C>T (p.Ala837=)
|
|
|
NM_000440.3(PDE6A):c.2526G>C (p.Pro842=)
|
rs376909494
|
|
NM_000440.3(PDE6A):c.253C>T (p.Leu85=)
|
|
|
NM_000440.3(PDE6A):c.2562C>T (p.Ser854=)
|
rs2113488146
|
|
NM_000440.3(PDE6A):c.273A>G (p.Ala91=)
|
rs2113673450
|
|
NM_000440.3(PDE6A):c.303C>T (p.Thr101=)
|
|
|
NM_000440.3(PDE6A):c.345C>T (p.Val115=)
|
rs1194504213
|
|
NM_000440.3(PDE6A):c.363C>A (p.Leu121=)
|
|
|
NM_000440.3(PDE6A):c.36C>T (p.Phe12=)
|
|
|
NM_000440.3(PDE6A):c.375G>A (p.Leu125=)
|
rs2113673212
|
|
NM_000440.3(PDE6A):c.406T>C (p.Leu136=)
|
rs375500044
|
|
NM_000440.3(PDE6A):c.429T>C (p.His143=)
|
rs2113673098
|
|
NM_000440.3(PDE6A):c.432C>T (p.Val144=)
|
|
|
NM_000440.3(PDE6A):c.474+8C>T
|
|
|
NM_000440.3(PDE6A):c.475-16C>A
|
|
|
NM_000440.3(PDE6A):c.475-18A>G
|
|
|
NM_000440.3(PDE6A):c.570C>G (p.Ala190=)
|
rs1754132339
|
|
NM_000440.3(PDE6A):c.672G>A (p.Val224=)
|
|
|
NM_000440.3(PDE6A):c.699T>C (p.Cys233=)
|
|
|
NM_000440.3(PDE6A):c.717+12G>A
|
rs917365083
|
|
NM_000440.3(PDE6A):c.717+14G>A
|
|
|
NM_000440.3(PDE6A):c.717+20G>A
|
rs780162381
|
|
NM_000440.3(PDE6A):c.717+20G>T
|
|
|
NM_000440.3(PDE6A):c.718-9dup
|
rs575263004
|
|
NM_000440.3(PDE6A):c.735G>T (p.Gly245=)
|
rs1205889575
|
|
NM_000440.3(PDE6A):c.756T>C (p.Leu252=)
|
|
|
NM_000440.3(PDE6A):c.75C>T (p.Asn25=)
|
|
|
NM_000440.3(PDE6A):c.789G>A (p.Leu263=)
|
|
|
NM_000440.3(PDE6A):c.78C>T (p.Leu26=)
|
|
|
NM_000440.3(PDE6A):c.859-4C>T
|
|
|
NM_000440.3(PDE6A):c.859-8A>C
|
|
|
NM_000440.3(PDE6A):c.861A>G (p.Glu287=)
|
|
|
NM_000440.3(PDE6A):c.86G>A (p.Arg29Gln)
|
rs201008270
|
|
NM_000440.3(PDE6A):c.891T>C (p.Gly297=)
|
|
|
NM_000440.3(PDE6A):c.906C>T (p.Tyr302=)
|
rs2113640830
|
|
NM_000440.3(PDE6A):c.915C>G (p.Pro305=)
|
|
|
NM_000440.3(PDE6A):c.915C>T (p.Pro305=)
|
rs1285233372
|
|
NM_000440.3(PDE6A):c.924G>A (p.Pro308=)
|
|
|
NM_000440.3(PDE6A):c.924G>C (p.Pro308=)
|
rs369194532
|
|
NM_000440.3(PDE6A):c.933+10C>T
|
|
|
NM_000440.3(PDE6A):c.934-12C>T
|
|
|
NM_000440.3(PDE6A):c.934-13T>C
|
|
|
NM_000440.3(PDE6A):c.934-14CT[2]
|
rs1753507180
|
|
NM_000440.3(PDE6A):c.934-5G>A
|
|
|
NM_000440.3(PDE6A):c.996C>T (p.Ile332=)
|
|
|
NM_000440.3(PDE6A):c.999-15_999-12del
|
rs2113616352
|
|